Canonical Allele Identifier: CA2623116494

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51944288-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944288_51944289insG , CM000675.2:g.51944288_51944289insG	GRCh38
NC_000013.10:g.52518424_52518425insG , CM000675.1:g.52518424_52518425insG	GRCh37
NC_000013.9:g.51416425_51416426insG	NCBI36
NG_008806.1:g.72206_72207insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1735_*894-1734insC	ENSP00000489512.2:n.*894-1735_*894-1734insC
ENST00000673864.2:c.*1807_*1808insC	ENSP00000501045.2:n.*1807_*1808insC
ENST00000674147.2:c.2442_2443insC	ENSP00000500964.2:p.Lys815GlnfsTer6
ENST00000242839.10:c.3063_3064insC MANE Select	ENSP00000242839.5:p.Lys1022GlnfsTer6
ENST00000344297.9:c.2442_2443insC	ENSP00000342559.5:p.Lys815GlnfsTer6
ENST00000400366.6:c.2730_2731insC	ENSP00000383217.3:p.Lys911GlnfsTer6
ENST00000448424.7:c.2811_2812insC	ENSP00000416738.3:p.Lys938GlnfsTer6
ENST00000673772.1:c.2829_2830insC	ENSP00000501168.1:p.Lys944GlnfsTer6
ENST00000673867.1:n.3202_3203insC
ENST00000674126.1:n.3426_3427insC
ENST00000674147.1:c.1998_1999insC	ENSP00000500964.1:p.Lys667GlnfsTer6
ENST00000242839.8:c.3063_3064insC	ENSP00000242839.4:p.Lys1022GlnfsTer6
ENST00000344297.8:c.2442_2443insC	ENSP00000342559.5:p.Lys815GlnfsTer6
ENST00000400366.5:c.2730_2731insC	ENSP00000383217.3:p.Lys911GlnfsTer6
ENST00000400370.8:c.1773_1774insC	ENSP00000383221.3:p.Lys592GlnfsTer6
ENST00000418097.7:c.2868_2869insC	ENSP00000393343.2:p.Lys957GlnfsTer6
ENST00000448424.6:c.2829_2830insC	ENSP00000416738.2:p.Lys944GlnfsTer6
ENST00000466629.1:n.283_284insC
ENST00000634296.1:c.1022-1735_1022-1734insC
ENST00000634308.1:c.*164_*165insC	ENSP00000489234.1:n.*164_*165insC
ENST00000634620.1:n.3807_3808insC
ENST00000634810.1:n.2408_2409insC
ENST00000634844.1:c.2919_2920insC	ENSP00000489398.1:p.Lys974GlnfsTer6
ENST00000635406.1:n.409_410insC
NM_000053.3:c.3063_3064insC	NP_000044.2:p.Lys1022GlnfsTer6
NM_001005918.2:c.2442_2443insC	NP_001005918.1:p.Lys815GlnfsTer6
NM_001243182.1:c.2730_2731insC	NP_001230111.1:p.Lys911GlnfsTer6
XM_005266423.2:c.2967_2968insC	XP_005266480.1:p.Lys990GlnfsTer6
XM_005266424.3:c.2967_2968insC	XP_005266481.1:p.Lys990GlnfsTer6
XM_005266427.2:c.2829_2830insC	XP_005266484.1:p.Lys944GlnfsTer6
XM_005266428.1:c.2811_2812insC	XP_005266485.1:p.Lys938GlnfsTer6
XM_005266430.3:c.3063_3064insC	XP_005266487.1:p.Lys1022GlnfsTer6
XM_005266431.2:c.3027_3028insC	XP_005266488.1:p.Lys1010GlnfsTer6
XM_005266432.2:c.2577_2578insC	XP_005266489.1:p.Lys860GlnfsTer6
XM_006719837.2:c.2967_2968insC	XP_006719900.1:p.Lys990GlnfsTer6
XM_006719838.1:c.879_880insC	XP_006719901.1:p.Lys294GlnfsTer6
XM_006719839.1:c.877-1735_877-1734insC	XP_006719902.1:n.877-1735_877-1734insC
XM_011535117.1:c.2967_2968insC	XP_011533419.1:p.Lys990GlnfsTer6
XM_011535118.1:c.2928_2929insC	XP_011533420.1:p.Lys977GlnfsTer6
XM_011535119.1:c.3061-1735_3061-1734insC	XP_011533421.1:n.3061-1735_3061-1734insC
XM_011535120.1:c.2649_2650insC	XP_011533422.1:p.Lys884GlnfsTer6
XM_011535121.1:c.2731-1735_2731-1734insC	XP_011533423.1:n.2731-1735_2731-1734insC
XM_011535122.1:c.1731_1732insC	XP_011533424.1:p.Lys578GlnfsTer6
XR_941601.1:n.3282_3283insC
XR_941602.1:n.3282_3283insC
XR_941603.1:n.3282_3283insC
XR_941604.1:n.3282_3283insC
NM_001330578.1:c.2829_2830insC	NP_001317507.1:p.Lys944GlnfsTer6
NM_001330579.1:c.2811_2812insC	NP_001317508.1:p.Lys938GlnfsTer6
XM_005266424.4:c.2967_2968insC	XP_005266481.1:p.Lys990GlnfsTer6
XM_005266430.4:c.3063_3064insC	XP_005266487.1:p.Lys1022GlnfsTer6
XM_005266431.4:c.3027_3028insC	XP_005266488.1:p.Lys1010GlnfsTer6
XM_006719837.3:c.2967_2968insC	XP_006719900.1:p.Lys990GlnfsTer6
XM_011535117.3:c.2967_2968insC	XP_011533419.1:p.Lys990GlnfsTer6
XM_017020627.1:c.2967_2968insC	XP_016876116.1:p.Lys990GlnfsTer6
NM_000053.4:c.3063_3064insC MANE Select	NP_000044.2:p.Lys1022GlnfsTer6
NM_001005918.3:c.2442_2443insC	NP_001005918.1:p.Lys815GlnfsTer6
NM_001330579.2:c.2811_2812insC	NP_001317508.1:p.Lys938GlnfsTer6
NM_001243182.2:c.2730_2731insC	NP_001230111.1:p.Lys911GlnfsTer6
NM_001330578.2:c.2829_2830insC	NP_001317507.1:p.Lys944GlnfsTer6